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WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome.

Haase F, Gloss BS, Tam PPL, Gold WA. Haase F, et al. Int J Mol Sci. 2021 Sep 15;22(18):9954. doi: 10.3390/ijms22189954. Int J Mol Sci. 2021. PMID: 34576118 Free PMC article.

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Measures of attention in Rett syndrome: Internal consistency reliability.

Rose SA, Wass SV, Jankowski JJ, Djukic A. Rose SA, et al. Neuropsychology. 2021 Sep;35(6):595-608. doi: 10.1037/neu0000744. Epub 2021 Jun 7. Neuropsychology. 2021. PMID: 34096738

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Determinants of quality of life in Rett syndrome: new findings on associations with genotype.

Mendoza J, Downs J, Wong K, Leonard H. Mendoza J, et al. J Med Genet. 2021 Sep;58(9):637-644. doi: 10.1136/jmedgenet-2020-107120. Epub 2020 Aug 25. J Med Genet. 2021. PMID: 32843489

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Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome.

Downs J, Wong K, Drummond C, Leonard H. Downs J, et al. J Pediatr. 2021 Oct;237:244-249.e3. doi: 10.1016/j.jpeds.2021.06.060. Epub 2021 Jun 29. J Pediatr. 2021. PMID: 34214590

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Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

Xiol C, Heredia M, Pascual-Alonso A, Oyarzabal A, Armstrong J. Xiol C, et al. Int J Mol Sci. 2021 Sep 26;22(19):10375. doi: 10.3390/ijms221910375. Int J Mol Sci. 2021. PMID: 34638716 Free PMC article. Review.

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Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations.

Singh J, Lanzarini E, Nardocci N, Santosh P. Singh J, et al. Psychiatry Clin Neurosci. 2021 Dec;75(12):369-393. doi: 10.1111/pcn.13299. Epub 2021 Oct 21. Psychiatry Clin Neurosci. 2021. PMID: 34472659 Free PMC article. Review.

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Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study.

Bisgaard AM, Wong K, Højfeldt AK, Larsen JL, Schönewolf-Greulich B, Rønde G, Downs J, Stahlhut M. Bisgaard AM, et al. Am J Med Genet A. 2021 Dec;185(12):3683-3693. doi: 10.1002/ajmg.a.62429. Epub 2021 Jul 23. Am J Med Genet A. 2021. PMID: 34296518

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Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models.

Jiang Y, Fu X, Zhang Y, Wang SF, Zhu H, Wang WK, Zhang L, Wu P, Wong CCL, Li J, Ma J, Guan JS, Huang Y, Hui J. Jiang Y, et al. Nat Commun. 2021 Oct 1;12(1):5767. doi: 10.1038/s41467-021-26084-3. Nat Commun. 2021. PMID: 34599184 Free PMC article.

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Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome.

Marballi K, MacDonald JL. Marballi K, et al. Neurochem Int. 2021 Sep;148:105076. doi: 10.1016/j.neuint.2021.105076. Epub 2021 May 26. Neurochem Int. 2021. PMID: 34048843 Review.

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A case report of precocious puberty related to Rett syndrome and a literature review.

Yang L, Jiang M, Yu R, Hu R, Xiong F, Li J. Yang L, et al. Pharmazie. 2021 Nov 1;76(11):559-561. doi: 10.1691/ph.2021.1747. Pharmazie. 2021. PMID: 34782041 Review.

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